Mutagenetix > Incidental Mutation

Incidental Mutation 'R5045:Cyb5d2'

394345

Institutional Source

Beutler Lab

Gene Symbol

Cyb5d2

Ensembl Gene

ENSMUSG00000057778

Gene Name

cytochrome b5 domain containing 2

Synonyms

9330151E16Rik, neuferricin

MMRRC Submission

042635-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5045 (G1)

Quality Score

143

Status

Not validated

Chromosome

Chromosomal Location

72668058-72686665 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72686401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 63 (V63A)

Ref Sequence

ENSEMBL: ENSMUSP00000078623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069395] [ENSMUST00000079681] [ENSMUST00000156294] [ENSMUST00000207107] [ENSMUST00000172220]

AlphaFold

Q5SSH8

Predicted Effect

probably benign
Transcript: ENSMUST00000069395

SMART Domains

Protein: ENSMUSP00000068790
Gene: ENSMUSG00000055670

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	28	68	N/A	INTRINSIC
low complexity region	78	93	N/A	INTRINSIC
APC10	246	397	2.65e-48	SMART
internal_repeat_1	1122	1192	1.25e-7	PROSPERO
low complexity region	1472	1485	N/A	INTRINSIC
low complexity region	1512	1525	N/A	INTRINSIC
ZnF_ZZ	1775	1823	2.54e-7	SMART
ZnF_ZZ	1824	1868	1.2e-8	SMART
low complexity region	1947	1963	N/A	INTRINSIC
low complexity region	2127	2140	N/A	INTRINSIC
low complexity region	2249	2263	N/A	INTRINSIC
internal_repeat_1	2657	2726	1.25e-7	PROSPERO
low complexity region	2840	2853	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000079681
AA Change: V63A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078623
Gene: ENSMUSG00000057778
AA Change: V63A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Cyt-b5	38	134	5.75e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150551

Predicted Effect

probably benign
Transcript: ENSMUST00000156294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158599

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169476

Predicted Effect

probably benign
Transcript: ENSMUST00000207107

Predicted Effect

probably benign
Transcript: ENSMUST00000172220

SMART Domains

Protein: ENSMUSP00000130515
Gene: ENSMUSG00000055670

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	28	68	N/A	INTRINSIC
low complexity region	78	93	N/A	INTRINSIC
APC10	246	397	2.65e-48	SMART
internal_repeat_1	1006	1192	1.57e-16	PROSPERO
low complexity region	1472	1485	N/A	INTRINSIC
low complexity region	1512	1525	N/A	INTRINSIC
ZnF_ZZ	1775	1823	2.54e-7	SMART
ZnF_ZZ	1824	1868	1.2e-8	SMART
low complexity region	1947	1963	N/A	INTRINSIC
low complexity region	2127	2140	N/A	INTRINSIC
low complexity region	2249	2263	N/A	INTRINSIC
internal_repeat_1	2583	2759	1.57e-16	PROSPERO
low complexity region	2873	2886	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,530,327 (GRCm39)		probably benign	Het
2210408I21Rik	A	G	13: 77,415,927 (GRCm39)		probably null	Het
4930519P11Rik	A	T	2: 154,454,950 (GRCm39)	C136*	probably null	Het
4930519P11Rik	G	T	2: 154,454,982 (GRCm39)		probably benign	Het
Adgrb3	T	A	1: 25,113,860 (GRCm39)	H1189L	probably damaging	Het
Arhgap24	A	G	5: 103,039,743 (GRCm39)	I227V	possibly damaging	Het
Arhgap29	C	A	3: 121,796,244 (GRCm39)	N445K	probably benign	Het
Atp13a3	T	C	16: 30,158,694 (GRCm39)	H811R	probably benign	Het
Cd2ap	T	C	17: 43,118,851 (GRCm39)	N529S	probably benign	Het
Cdh20	T	A	1: 110,026,080 (GRCm39)	S439T	probably benign	Het
Ces3a	G	T	8: 105,777,248 (GRCm39)		probably null	Het
Cftr	T	A	6: 18,230,080 (GRCm39)	N408K	probably benign	Het
Chil5	T	C	3: 105,931,456 (GRCm39)	N136S	possibly damaging	Het
Col20a1	A	G	2: 180,648,638 (GRCm39)	D933G	probably damaging	Het
Crh	A	T	3: 19,748,153 (GRCm39)	L163*	probably null	Het
Ctps1	A	C	4: 120,410,075 (GRCm39)		probably null	Het
Cyp2d11	T	A	15: 82,275,272 (GRCm39)		probably null	Het
Dclk3	A	T	9: 111,296,856 (GRCm39)	E133D	probably damaging	Het
Dhrs9	A	G	2: 69,223,339 (GRCm39)	D29G	probably benign	Het
Disp2	G	A	2: 118,622,543 (GRCm39)	E1092K	probably benign	Het
Enpp3	A	G	10: 24,652,665 (GRCm39)	I764T	probably damaging	Het
Epm2aip1	C	A	9: 111,102,427 (GRCm39)	R467S	possibly damaging	Het
Fam20a	T	C	11: 109,568,711 (GRCm39)	I272V	probably benign	Het
Fgb	T	C	3: 82,950,680 (GRCm39)	Y358C	probably damaging	Het
Gm11596	A	T	11: 99,683,695 (GRCm39)	S142T	unknown	Het
Golga4	A	G	9: 118,394,724 (GRCm39)	T9A	probably benign	Het
Hmcn2	C	T	2: 31,299,093 (GRCm39)	P2813L	probably damaging	Het
Ighv1-9	C	T	12: 114,547,440 (GRCm39)	G34R	probably damaging	Het
Kalrn	A	C	16: 34,134,722 (GRCm39)	Y353*	probably null	Het
Klrk1	T	C	6: 129,594,466 (GRCm39)	Y42C	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Mbtd1	T	C	11: 93,822,641 (GRCm39)	Y484H	probably benign	Het
Mki67	T	C	7: 135,309,633 (GRCm39)	R273G	possibly damaging	Het
Myh11	A	T	16: 14,057,391 (GRCm39)	L308*	probably null	Het
Nacc2	G	A	2: 25,980,150 (GRCm39)		probably null	Het
Nadsyn1	A	G	7: 143,360,706 (GRCm39)	L354P	probably damaging	Het
Ntrk3	T	A	7: 78,110,172 (GRCm39)	Q354L	probably benign	Het
Or10ag58	A	T	2: 87,265,490 (GRCm39)	I220L	probably damaging	Het
Or52r1c	G	A	7: 102,735,664 (GRCm39)	G308E	probably benign	Het
Phactr3	T	C	2: 177,973,412 (GRCm39)	I470T	probably damaging	Het
Pkd1l3	C	T	8: 110,349,787 (GRCm39)	P211S	unknown	Het
Potefam1	T	A	2: 111,023,804 (GRCm39)	Q110L	unknown	Het
Prickle2	T	C	6: 92,353,375 (GRCm39)	D753G	probably damaging	Het
Prr12	A	G	7: 44,699,318 (GRCm39)		probably benign	Het
Psd3	T	C	8: 68,166,477 (GRCm39)	E917G	probably damaging	Het
Rgsl1	T	A	1: 153,697,268 (GRCm39)	K551*	probably null	Het
Stag3	T	C	5: 138,302,740 (GRCm39)	L1033P	probably damaging	Het
Tcaf3	T	A	6: 42,570,618 (GRCm39)	Q378L	possibly damaging	Het
Tdpoz8	G	T	3: 92,981,524 (GRCm39)	D181Y	probably damaging	Het
Tespa1	A	T	10: 130,197,904 (GRCm39)	K309*	probably null	Het
Trim69	A	G	2: 122,004,727 (GRCm39)	T275A	probably benign	Het
Txndc17	T	C	11: 72,098,537 (GRCm39)	Y30H	probably damaging	Het
Ugt2a2	A	T	5: 87,622,751 (GRCm39)	F72L	probably damaging	Het
Vmn2r59	A	T	7: 41,695,496 (GRCm39)	D305E	possibly damaging	Het
Vmn2r71	A	G	7: 85,273,597 (GRCm39)	I804V	probably benign	Het
Zfy2	T	C	Y: 2,107,159 (GRCm39)	K492E	possibly damaging	Het
Zkscan1	A	G	5: 138,099,182 (GRCm39)	H375R	probably damaging	Het

Other mutations in Cyb5d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3831:Cyb5d2	UTSW	11	72,686,349 (GRCm39)	missense	possibly damaging	0.82
R3832:Cyb5d2	UTSW	11	72,686,349 (GRCm39)	missense	possibly damaging	0.82
R3833:Cyb5d2	UTSW	11	72,686,349 (GRCm39)	missense	possibly damaging	0.82
R4063:Cyb5d2	UTSW	11	72,686,606 (GRCm39)	unclassified	probably benign
R4661:Cyb5d2	UTSW	11	72,669,771 (GRCm39)	missense	probably damaging	1.00
R5835:Cyb5d2	UTSW	11	72,680,036 (GRCm39)	missense	probably damaging	1.00
R6453:Cyb5d2	UTSW	11	72,673,586 (GRCm39)	missense	probably benign	0.29
R7743:Cyb5d2	UTSW	11	72,669,702 (GRCm39)	missense	probably damaging	1.00
R8297:Cyb5d2	UTSW	11	72,679,929 (GRCm39)	missense	probably damaging	1.00
R8325:Cyb5d2	UTSW	11	72,669,651 (GRCm39)	missense	possibly damaging	0.89
R8406:Cyb5d2	UTSW	11	72,679,959 (GRCm39)	missense	probably benign	0.38
R8774:Cyb5d2	UTSW	11	72,679,901 (GRCm39)	critical splice donor site	probably null
R8774-TAIL:Cyb5d2	UTSW	11	72,679,901 (GRCm39)	critical splice donor site	probably null
R8797:Cyb5d2	UTSW	11	72,669,662 (GRCm39)	missense	probably benign	0.01
R9057:Cyb5d2	UTSW	11	72,679,924 (GRCm39)	missense	probably benign	0.13
R9479:Cyb5d2	UTSW	11	72,669,702 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TTGCGTCCAAGCTGCAAAC -3'
(R):5'- GCTGTATAGATGCTGAGGATATGC -3'

Sequencing Primer
(F):5'- TGCAAACCAGGACCGTGTC -3'
(R):5'- CTGAGGATATGCGGGCTTG -3'

Posted On

2016-06-15